chr1-83870002-C-T
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_024686.6(TTLL7):c.2624G>A(p.Arg875His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000017 in 1,590,518 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/22 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_024686.6 missense
Scores
Clinical Significance
Conservation
Publications
Genome browser will be placed here
ACMG classification
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TTLL7 | NM_024686.6 | c.2624G>A | p.Arg875His | missense_variant | Exon 21 of 21 | ENST00000260505.13 | NP_078962.4 | |
TTLL7 | NM_001350214.2 | c.2624G>A | p.Arg875His | missense_variant | Exon 22 of 22 | NP_001337143.1 | ||
TTLL7 | NM_001350215.2 | c.2543G>A | p.Arg848His | missense_variant | Exon 20 of 20 | NP_001337144.1 | ||
TTLL7 | XM_047430691.1 | c.1889G>A | p.Arg630His | missense_variant | Exon 15 of 15 | XP_047286647.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152134Hom.: 0 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.0000131 AC: 3AN: 228726 AF XY: 0.0000241 show subpopulations
GnomAD4 exome AF: 0.0000174 AC: 25AN: 1438384Hom.: 0 Cov.: 30 AF XY: 0.0000196 AC XY: 14AN XY: 715082 show subpopulations
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152134Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74312 show subpopulations
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2624G>A (p.R875H) alteration is located in exon 21 (coding exon 20) of the TTLL7 gene. This alteration results from a G to A substitution at nucleotide position 2624, causing the arginine (R) at amino acid position 875 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at